A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998309



Internal ID19187620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:18386613..18398414hg38UCSC Ensembl
OuterchrY:20548499..20560300hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3811802
hg1911802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146944
Supporting Variants
SamplesKWB1
Known GenesFAM41AY1, FAM41AY2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998309
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer